Individual #00017972

Reference -
Gender F
Geographic origin Patra
Geographic origin Agrinio
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases BrCa
Owner name Despoina Kalfakakou


Phenotypes

Breast Cancer (BrCa)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

Histology     

Behaviour     

Grade     

Stage     

ER     

PR     

HER2     

BRCA/FH     

Subtype     

Subcategory     

Owner     
0000010840 50y - - Ductal Invasive II N/A Positive Negative Positive - - - Despoina Kalfakakou
0000010841 50y - - Ductal Invasive II N/A Negative Negative Negative - - - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000002197 DNA SEQ-NG-I 1 - 6 Despoina Kalfakakou



Variants

6 entries on 1 page. Showing entries 1 - 6.
Legend  

Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Variant remarks     

Genetic origin     

Segregation     

Also Known As     

Geographic Origin (for founder variants)     

Is Greek Founder     

Owner     

Gene     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
2 Parent #2 ./. g.128016978G>A - ERCC3_000015 rs4150521 - - - - - - Despoina Kalfakakou ERCC3 - NM_000122.1:c.2111C>T r.(?) p.(Ser704Leu)
2 Parent #2 ./. g.233195514C>G - DIS3L2_000013 - - - - - - - Despoina Kalfakakou DIS3L2 - NM_001257281.1:c.1582-12541C>G, NM_152383.4:c.2010+28C>G r.(=) p.(=)
7 Parent #2 ./. g.6042307C>T - PMS2_000034 - - - - - - - Despoina Kalfakakou PMS2 - NM_000535.5:c.354-40G>A r.(=) p.(=)
8 Parent #2 ./. g.145739430C>A - RECQL4_000094 - - - - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.1940G>T - p.?
11 Parent #2 ./. g.108155240G>A - ATM_000063 rs3218709 - - - - - - Despoina Kalfakakou ATM - NM_000051.3:c.3993+40G>A r.(=) p.(=)
17 Parent #2 ./. g.29508699T>C - NF1_000101 - - - - - - - Despoina Kalfakakou NF1 - NM_000267.3:c.655-29T>C, NM_001042492.2:c.655-29T>C, NM_001128147.2:c.655-29T>C r.(=) p.(=)
Legend